Canonical Allele Identifier: CA338230707

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986091-G-T
• MyVariant Identifiers: chr1:g.17312586G>T (hg19) ; chr1:g.16986091G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986091G>T , CM000663.2:g.16986091G>T	GRCh38
NC_000001.10:g.17312586G>T , CM000663.1:g.17312586G>T	GRCh37
NC_000001.9:g.17185173G>T	NCBI36
NG_009054.1:g.30838C>A
NG_029688.1:g.496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*130C>A MANE Select	ENSP00000327214.8:n.*130C>A
ENST00000326735.12:c.*130C>A	ENSP00000327214.8:n.*130C>A
ENST00000341676.9:c.3371C>A	ENSP00000341115.5:p.Pro1124Gln
ENST00000452699.5:c.*130C>A	ENSP00000413307.1:n.*130C>A
ENST00000466561.1:n.1719C>A
ENST00000502418.1:c.1091C>A	ENSP00000423065.1:p.Pro364Gln
NM_001141973.2:c.*130C>A	NP_001135445.1:n.*130C>A
NM_001141974.2:c.3371C>A	NP_001135446.1:p.Pro1124Gln
NM_022089.3:c.*130C>A	NP_071372.1:n.*130C>A
XM_005245809.1:c.3503C>A	XP_005245866.1:p.Pro1168Gln
XM_005245810.1:c.3500C>A	XP_005245867.1:p.Pro1167Gln
XM_005245811.1:c.3488C>A	XP_005245868.1:p.Pro1163Gln
XM_005245812.1:c.3476C>A	XP_005245869.1:p.Pro1159Gln
XM_005245813.1:c.3443C>A	XP_005245870.1:p.Pro1148Gln
XM_005245815.1:c.3386C>A	XP_005245872.1:p.Pro1129Gln
XM_006710512.1:c.3485C>A	XP_006710575.1:p.Pro1162Gln
XM_006710513.1:c.3461C>A	XP_006710576.1:p.Pro1154Gln
XM_011541128.1:c.3488C>A	XP_011539430.1:p.Pro1163Gln
XM_011541129.1:c.3296C>A	XP_011539431.1:p.Pro1099Gln
XM_017000844.1:c.*130C>A	XP_016856333.1:n.*130C>A
XM_017000845.1:c.*130C>A	XP_016856334.1:n.*130C>A
XM_017000846.1:c.*130C>A	XP_016856335.1:n.*130C>A
XM_017000847.1:c.*130C>A	XP_016856336.1:n.*130C>A
XM_017000848.1:c.*130C>A	XP_016856337.1:n.*130C>A
XM_017000849.1:c.*130C>A	XP_016856338.1:n.*130C>A
XM_017000850.1:c.*130C>A	XP_016856339.1:n.*130C>A
NM_022089.4:c.*130C>A MANE Select	NP_071372.1:n.*130C>A
NM_001141973.3:c.*130C>A	NP_001135445.1:n.*130C>A
NM_001141974.3:c.3371C>A	NP_001135446.1:p.Pro1124Gln